It’s Time for Renal Board Review
WELCOME TO…………
RENAL THINGS YOU NEED
TO KNOW BUT NEVER
LEARN MUCH ABOUT
OTHERWISE!
Renal cystic disorders in childhood

Four types
◦
◦
◦
◦
ADPKD
Cystic renal dysplasia
ARPKD
Medullary cystic disease
ADPKD




Autosomal dominant
Adult type (adult onset disorder)
Variable phenotypic expression
Can present with
◦
◦
◦
◦
◦
◦
◦
Flank/back pain
Hematuria
Urinary frequency
Palpable kidney
Inguinal hernia
HTN
Concentrating defects
ADPKD







Large cysts
BILATERAL!
Enlarged kidneys
Asymmetrical
All parts of the
nephron affected
What other organ
may have cysts?
LIVER! Spleen,
Pancreas
ADPKD




You are seeing a kid in the ER for “worst
headache ever”. He is with his grandmother
who you note has an AV fistula in her R arm
and has mild dysphasia.
What are you concerned about?
Ruptured intrancranial aneurysm
Most complications are seen in adults
◦ Colonic diverticula
◦ Mitral valve prolapse
◦ Renal failure
Question
12 yo girl, otherwise healthy except for
persistent microscopic hematuria. PGM
died at age 51 while on dialysis. Her BP is
155/88 and she has bilateral flank masses.
What is the preferred diagnostic
procedure?
 Renal Ultrasound
 What do you expect to find?

ADPKD







Large cysts
BILATERAL!
Enlarged kidneys
Asymmetrical
All parts of the
nephron affected
What other organ
may have cysts?
LIVER! Spleen,
Pancreas
Imaging and Genetic testing


25 yo mother of a 7 yo girl in your practice
has just found out that she has two cysts on
her right kidney. Her 60 yo father has
ADPKD and is on renal dialysis.
The most appropriate management for your
patient is
◦
◦
◦
◦
◦
Annual renal US
Annual serum creatinine measurement
Biannual UA
Genetic testing
Observation and education
Imaging and Genetic testing in
ADPKD
Observation and education
 Observe for hematuria, HTN, flank pain
 Educate them about their risk so they can
make their own decisions when they
reach adulthood regarding screening and
testing
 In general, children at risk for an inherited
adult-onset disorder should not undergo
testing for that disorder if they are
asymptomatic

ARPKD





Autosomal recessive
Presents in infancy
Infantile form
BILATERAL enlarged
kidneys
Congenital hepatic
fibrosis is always
present
ARPKD
Question
3 yo girl with hematemesis. Pale, anicteric. Her
BP is 80/40 and P 110. On exam, you note HSM.
PMH: enlarged cystic kidneys diagnosed at 1 yo.
 What’s the underlying cause of her bleeding?

◦
◦
◦
◦
◦
Alpha 1 antitrypsin deficiency
Autoimmune hepatitis
Biliary atresia
Cavernous transformation of the portal vein
Congenital hepatic fibrosis
What kidney problem does she have?
 ARPKD

APKD vs ARPKD
Cysts in pancreas or spleen?
 ADPKD
 Cerebral aneurysms?
 ADPKD
 Oligohydramnios and h/o mechanical
ventilation?
 ARPKD
 Bilateral involvement?
 BOTH!!!

APKD vs ARPKD
Normal RUS in both parents?
 ARPKD
 Hepatic involvement?
 ARPKD

◦ Hepatic fibrosis or biliary obstruction
Liver cysts?
 ADPKD

That’s my boy! Go Hornets!
Cystic Renal Dysplasia



Deficient renal parenchyma (hypoplasia)
Abnormally differentiated parenchyma
(dysplasia)
Multicystic dysplastic kidneys is most
common cystic disorder
◦
◦
◦
◦
◦
Poor weight gain
Pallor
Emesis
Tachypnea
Metabolic acidosis secondary to renal
insufficiency
Unilateral renal hypoplasia/dysplasia
Cystic Renal Dysplasia
True or False?
 Cystic dysplasia may be a major
component of several syndromes
 TRUE

◦
◦
◦
◦
◦
VATER
CHARGE
Beckwith Wiedemann
Noonan
Cornelia de Lange
Multicystic dysplasia
Multicystic dysplasia









Most common cystic disorder
Most common cause of abdominal mass in
newborns
Usually UNILATERAL
Affected kidney usually dysplatic and nonfunctional
Call surgery for a nephrectomy?
NO!
Why?
Most multicystic kidneys spontaneously involute
Rarely cause HTN, tumor, or infection
PREP Question

Neonate with an abdominal mass. RUS
shows normal right kidney and enlarged left
kidney with multiple non-communicating
cysts. Renal scan shows no function in the
left kidney. What is the next step in
evaluation of this neonate?
◦
◦
◦
◦
◦
Abdominal CT
Abdominal MRI
IVP
Renal scintigraphy (scan)
VCUG
PREP Question
VCUG!
 To evaluate GU tract

◦ UPJ,VUR, PUV, megaurter, duplicated ureter

On RUS also see thin renal parenchyma
and dysplasia
Multicystic dysplastic kidneys
Remember MCKD…
 Usually unilateral
 Enlarged kidney with non-communicating
cysts and dysplasia
 MCKD has NO function
 Prognosis depends on involvement of
contralateral kidney
 Need VCUG to evaluate for other GU
anomalies

Fluids in MCKD patients
Restrict?
 Liberalize?
 Patients with renal dysplasia are unable to
conserve salt and water and concentrate
their urine and are prone to dehydration.
 If voiding established, liberalize their fluid
intake.

Juvenile onset medullary cystic
disease
Autosomal recessive
 Polyuria
 Polydipsia
 Concentrating defect
 Eneuriesis
 Eye problems!

In Summary…

Unilateral, non-functioning kidney
◦ MCKD

Associated with other syndromes
◦ MCKD

Bilateral; presents in infancy; hepatic
fibrosis
◦ ARPKD

Bilateral; adult onset disease; intracranial
aneurysms
◦ ADPKD
Thursday night!!!!
Question
A 2 month old is diagnosed with a UTI.
RUS demonstrates severe bilateral
hydronephrosis.
 Most likely diagnosis?

◦
◦
◦
◦
ADPKD
ARPKD
PUV
Renal dysplasia
PREP Question

You are evaluating a newborn with lax
abdominal musculature and bilateral
undescended testes. Rest of PE is normal.
Most likely urologic abnormailty?
◦
◦
◦
◦
◦
Hydronephrosis
Renal cysts
Ureterocele
Ureteropelvic junction obstruction
Vesicoureteral reflux
Prune –Belly Syndrome



Eagle-Barrett
Syndrome
Abdominal
musculature absent
Renal and GU
abnormalities
◦
◦
◦
◦
VUR 75%
Enlarged bladder
Urinary stasis
Cryptochordism
 Infertility
◦ Hydronephrosis
 PUV,VUR, UPJ
Question


You are seeing a 6 yo
child with a history of
infantile spasms and
mental retardation.
He is in your office for
HTN and his
creatinine is 1.2. He
also has a
hypopigmented macule
over his abdomen and
abdominal distension.
Diagnosis?
Question


Tuberous Sclerosis
What’s the most likely associated renal
abnormality?
◦
◦
◦
◦

ADPKD
ARPKD
Renal angiomyolipoma
MCKD
Renal angiomyolipomas are multiple soft
tissue masses that stretch and distort the
collecting system and cause renal
enlargement
PREP Question
You are seeing a 10 yo male and a 13 yo
female in clinic. Both have normal
histories and exams. FH is positive for
two uncles on HD who are deaf and a GF
who died of kidney disease.
 The boy’s UA shows moderate blood,
negative protein and 20-30 RBC.
 The girl’s UA shows trace blood and 5-10
RBC.
 Diagnosis?

Alport’s syndrome
Hereditary progressive nephritis
 X linked dominant (85%)
 Autosomal recessive (15%)
 Affects kidney, cochlea, eyes
 Abnormal type IV collagen
 Persistent or recurrent hematuria
 Proteinuria increases as disease
progresses

PREP Question

The most accurate statement regarding
prognosis is
A. The boy will develop ESRD; the girl will not
develop ESRD
B. The chances of developing ESRD are equal in
the boy and the girl
C. The boy will develop ESRD with hearing
deficits; the girl will not develop ESRD
D. The boy will develop ESRD and esophageal
leiomyomatosis; the girl will develop only
hearing deficits
E. The boy will develop ESRD and giant cell
thrombocytosis
Alport’s syndrome
Progressive renal failure
 High frequency sensorineural hearing loss

◦ 4000-8000 Hz
Abnormalities of lens of eye
 Males affected earlier and more severely
than females
 Females may have minor renal
insufficiency

PREP Question

An infant is born following a pregnancy
with no prenatal care. Reduced fundal
height is noted at onset of labor. There
are NRFHT. At birth, the infant has
respiratory distress, a large flank mass on
the left, and joint contractures. The infant
looks like this:
PREP Question

RUS shows a single left multicystic and
dysplastic kidney; the right kideny is
absent. The best explanation for these
findings is:
◦
◦
◦
◦
◦
Alport disease
Congenital nephrotic syndrome
Congenital Wilms tumor
Oligohydramnios sequence
Turner syndrome
Potter’s sequence
Oligohydramnios from poor in utero
urine production
 Pulmonary hypoplasia
 Fetal compression
 Bilateral renal aplasia= true Potter’s
syndrome
 What is the most common orthopedic
complication?
 Clubbed feet

GO Hornets!
PREP Question

A newborn is edematous but requires fluid
resuscitation at birth for respiratory distress
and hypotension. He has an abnormal RUS.
UOP is excellent.
 Na 127Cl 92
BUN 10
 K 4.6
HCO3 27
Cr 0.7
 Alb 0.7 UA 4+ protein
Upr/Cr 43.5

Diagnosis?
◦
◦
◦
◦
FSGS
Minimal change disease
Congenital nephrotic syndrome
Membranous nephropathy
And the answer is…
Congenital Nephrotic Syndrome
 Presents at birth
 Cystic malformation of the kidneys
 Lose massive quantities of essential
proteins for growth and development

◦ FTT and malnutrition

Defect in protein nephrin
What do you notice in these
images?
Crossed renal
Short
neck
from
fused
cervical
vertebrae
ectopia
Left ureter crosses
midline and inserts
into left side of
bladder
Things that go together…
Fused cervical vertebrae and crossed renal
ectopy (Also renal agenesis or duplication)
 _ _ _P P _ _-_ E _ _ syndrome
 KLIPPEL-FEIL!
 Hypophosphatemia, normal calcium, normal
PTH, and a 1,25 hydroxy-vitamin D level that
is inappropriately low for the level of
hypophosphatemeia
 _____?______ Rickets
 Hypophosphatemic

Things that go together…

Horseshoe kidney and
◦ _ _ _ obsturction
◦ UPJ!

Cystic kidney disease and
◦ _ _ _ _ _ _ hypertension
◦ PORTAL! (Hepatic fibrosis)
LAST BUT NOT LEAST…
LEARN ABOUT THE
KIDNEY BECAUSE
THE KIDNEY IS
EVERYWHERE YOU LOOK!
Thanks for your attention!